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Letter
Nature Genetics 37, 537–543 (1 May 2005) | doi:10.1038/ng1552
Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways
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Abstract
Cystic renal diseases are caused by mutations of proteins that share a unique subcellular localization: the primary cilium of tubular epithelial cells. Mutations of the ciliary protein inversin cause nephronophthisis type II, an autosomal recessive cystic kidney disease characterized by extensive renal cysts, situs inversus and renal failure.
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